Allele Registry

Canonical Allele Identifier: PA2827026761

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000449516

ClinVar Variation:

397610

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Asp294Asn	CA16609446 NM_001318975.1:c.880G>A